Human genes for Waardenburg syndrome type 4C
Waardenburg syndrome type 4C [DOID:0110955]
A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13.
Synonyms: Waardenburg syndrome type 4C, DOID:0110955, WS4C, Waardenburg syndrome type IVC, Waardenburg syndrome with Hirschsprung disease type 4C ...